This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repre... See more...

Aliases for ARID1A Gene

Aliases for ARID1A Gene

  • AT-Rich Interaction Domain 1A 2 3 5
  • BAF250 2 3 4
  • B120 2 3 4
  • SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator Of Chromatin Subfamily F Member 1 3 4
  • AT-Rich Interactive Domain-Containing Protein 1A 3 4
  • AT Rich Interactive Domain 1A (SWI-Like) 2 3
  • ARID Domain-Containing Protein 1A 3 4
  • SWI/SNF Complex Protein P270 3 4
  • BRG1-Associated Factor 250a 3 4
  • SWI-Like Protein 3 4
  • Osa Homolog 1 3 4
  • BAF250a 2 3
  • SMARCF1 3 4
  • C1orf4 3 4
  • HOSA1 3 4
  • OSA1 3 4
  • P270 2 3
  • HELD 3 4
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily F, Member 1 2
  • AT Rich Interactive Domain 1A (SWI- Like) 2
  • Chromatin Remodeling Factor P250 3
  • BRG1-Associated Factor 250 4
  • OSA1 Nuclear Protein 3
  • Brain Protein 120 3
  • BAF250A 4
  • ARID1A 5
  • C10rf4 2
  • BM029 3
  • MRD14 3
  • CSS2 3
  • ELD 3

External Ids for ARID1A Gene

Previous HGNC Symbols for ARID1A Gene

  • C1orf4
  • SMARCF1

Previous GeneCards Identifiers for ARID1A Gene

  • GC01P026627
  • GC01P026706
  • GC01P026895
  • GC01P027022
  • GC01P025309

Summaries for ARID1A Gene

Entrez Gene Summary for ARID1A Gene

  • This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CIViC Summary for ARID1A Gene

GeneCards Summary for ARID1A Gene

ARID1A (AT-Rich Interaction Domain 1A) is a Protein Coding gene. Diseases associated with ARID1A include Coffin-Siris Syndrome 2 and Coffin-Siris Syndrome 1. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include binding and nuclear receptor binding. An important paralog of this gene is ARID1B.

UniProtKB/Swiss-Prot Summary for ARID1A Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Gene Wiki entry for ARID1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARID1A Gene

Genomics for ARID1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARID1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARID1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARID1A

Top Transcription factor binding sites by QIAGEN in the ARID1A gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-1
  • p53
  • Pax-4a

Genomic Locations for ARID1A Gene

Latest Assembly
chr1:26,693,236-26,782,104
(GRCh38/hg38)
Size:
88,869 bases
Orientation:
Plus strand

Previous Assembly
chr1:27,022,506-27,108,595
(GRCh37/hg19 by Entrez Gene)
Size:
86,090 bases
Orientation:
Plus strand

chr1:27,022,524-27,108,595
(GRCh37/hg19 by Ensembl)
Size:
86,072 bases
Orientation:
Plus strand

Genomic View for ARID1A Gene

Genes around ARID1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARID1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARID1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID1A Gene

Proteins for ARID1A Gene

  • Protein details for ARID1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14497-ARI1A_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 1A
    Protein Accession:
    O14497
    Secondary Accessions:
    • D3DPL1
    • Q53FK9
    • Q5T0W1
    • Q5T0W2
    • Q5T0W3
    • Q8NFD6
    • Q96T89
    • Q9BY33
    • Q9HBJ5
    • Q9UPZ1

    Protein attributes for ARID1A Gene

    Size:
    2285 amino acids
    Molecular mass:
    242045 Da
    Quaternary structure:
    • Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204, PubMed:12200431, PubMed:8804307, PubMed:11780067, PubMed:11988099, PubMed:15170388). Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:12200431, PubMed:11734557, PubMed:18765789,). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of a SWI/SNF-like EBAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:15170388). Interacts with SMARCC1/BAF155 (PubMed:15170388).
    SequenceCaution:
    • Sequence=AAF75765.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG33967.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA23269.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA83073.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA83073.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARID1A Gene

    Alternative splice isoforms for ARID1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID1A Gene

Post-translational modifications for ARID1A Gene

  • Ubiquitination at Lys1201 and Lys1662
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARID1A Gene

Domains & Families for ARID1A Gene

Gene Families for ARID1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ARID1A Gene

InterPro:
Blocks:
  • ARID (AT-rich interaction domain) protein

Suggested Antigen Peptide Sequences for ARID1A Gene

GenScript: Design optimal peptide antigens:
  • ARID1A protein (A4FU79_HUMAN)
  • hELD (ARI1A_HUMAN)
  • ARID1A (C1KEN7_HUMAN)
  • AT rich interactive domain 1A (SWI-like) (Q5JYH3_HUMAN)
  • cDNA FLJ14749 fis, clone NT2RP3002876, weakly similar to Drosophila melanogaster eyelid (eld) mRNA (Q96SM7_HUMAN)
genes like me logo Genes that share domains with ARID1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARID1A Gene

Function for ARID1A Gene

Molecular function for ARID1A Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Phenotypes From GWAS Catalog for ARID1A Gene

Gene Ontology (GO) - Molecular Function for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,NAS 10757798
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005515 protein binding IPI 11780067
GO:0016922 nuclear receptor binding IPI 17363140
GO:0031491 contributes_to nucleosome binding IBA 21873635
genes like me logo Genes that share ontologies with ARID1A: view
genes like me logo Genes that share phenotypes with ARID1A: view

Human Phenotype Ontology for ARID1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARID1A Gene

MGI Knock Outs for ARID1A:

miRNA for ARID1A Gene

miRTarBase miRNAs that target ARID1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARID1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARID1A Gene

Localization for ARID1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID1A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARID1A gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 17363140
GO:0005634 nucleus IEA,TAS 12200431
GO:0005654 nucleoplasm IDA --
GO:0016514 SWI/SNF complex IEA,IDA 8804307
GO:0035060 brahma complex IEA --
genes like me logo Genes that share ontologies with ARID1A: view

Pathways & Interactions for ARID1A Gene

genes like me logo Genes that share pathways with ARID1A: view

Pathways by source for ARID1A Gene

1 BioSystems pathway for ARID1A Gene
2 KEGG pathways for ARID1A Gene
2 GeneGo (Thomson Reuters) pathways for ARID1A Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
2 Qiagen pathways for ARID1A Gene
  • AMPK Enzyme Complex Pathway
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for ARID1A Gene

Gene Ontology (GO) - Biological Process for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IEA,IDA 11726552
GO:0006357 regulation of transcription by RNA polymerase II NAS 8804307
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with ARID1A: view

No data available for SIGNOR curated interactions for ARID1A Gene

Drugs & Compounds for ARID1A Gene

(3) Drugs for ARID1A Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2791
Olaparib Approved Pharma PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 321
Poly(ADP-ribose) Polymerase Inhibitors Pharma 725
genes like me logo Genes that share compounds with ARID1A: view

Transcripts for ARID1A Gene

mRNA/cDNA for ARID1A Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARID1A

Alternative Splicing Database (ASD) splice patterns (SP) for ARID1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

ExUns: 19b · 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ARID1A Gene

GeneLoc Exon Structure for
ARID1A

Expression for ARID1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARID1A Gene

Protein differential expression in normal tissues from HIPED for ARID1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.9), CD8 Tcells (10.6), and Monocytes (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARID1A Gene



Protein tissue co-expression partners for ARID1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARID1A

SOURCE GeneReport for Unigene cluster for ARID1A Gene:

Hs.468972

mRNA Expression by UniProt/SwissProt for ARID1A Gene:

O14497-ARI1A_HUMAN
Tissue specificity: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.

Evidence on tissue expression from TISSUES for ARID1A Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Stomach(4.5)
  • Intestine(3.4)
  • Blood(2.9)
  • Skin(2.8)
  • Lymph node(2.7)
  • Muscle(2.7)
  • Kidney(2.7)
  • Spleen(2.6)
  • Heart(2.5)
  • Lung(2.4)
  • Bone marrow(2.3)
  • Pancreas(2.3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARID1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ARID1A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ARID1A Gene

Orthologs for ARID1A Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARID1A 29 30
  • 99.74 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 89 (a)
OneToMany
-- 30
  • 75 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ARID1A 29 30
  • 95.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARID1A 29 30
  • 94.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arid1a 29 16 30
  • 92.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARID1A 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arid1a 29
  • 91.94 (n)
Chicken
(Gallus gallus)
Aves -- 30
  • 83 (a)
OneToMany
ARID1A 29
  • 80.54 (n)
-- 30
  • 48 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ARID1A 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arid1a 29
  • 70.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii arid1ab 29 30
  • 69.09 (n)
OneToMany
arid1aa 30
  • 61 (a)
OneToMany
Dr.26931 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12620 29
Fruit Fly
(Drosophila melanogaster)
Insecta osa 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea let-526 30
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.335 30
  • 47 (a)
OneToOne
Species where no ortholog for ARID1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARID1A Gene

ENSEMBL:
Gene Tree for ARID1A (if available)
TreeFam:
Gene Tree for ARID1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARID1A: view image
Alliance of Genome Resources:
Additional Orthologs for ARID1A

Paralogs for ARID1A Gene

Paralogs for ARID1A Gene

(2) SIMAP similar genes for ARID1A Gene using alignment to 8 proteins:

  • ARI1A_HUMAN
  • A4FU79_HUMAN
  • C1KEN7_HUMAN
  • E9PQW6_HUMAN
  • H0Y488_HUMAN
  • H0YCU6_HUMAN
  • H0YEW5_HUMAN
  • Q96SM7_HUMAN
genes like me logo Genes that share paralogs with ARID1A: view

Variants for ARID1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARID1A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1012517 Likely Benign: not provided 26,696,760(+) G/A
NM_006015.6(ARID1A):c.357G>A (p.Glu119=)
SYNONYMOUS
1012518 Likely Pathogenic: not provided 26,779,023(+) C/T
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe)
MISSENSE
1028989 Uncertain Significance: Mental retardation, autosomal dominant 14 26,731,513(+) C/T
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)
MISSENSE
1028990 Uncertain Significance: Mental retardation, autosomal dominant 14 26,766,244(+) A/G
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser)
MISSENSE
1028991 Uncertain Significance: Mental retardation, autosomal dominant 14 26,696,692(+) G/A
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARID1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARID1A Gene

Variant ID Type Subtype PubMed ID
dgv67n106 CNV deletion 24896259
esv275548 CNV loss 21479260
nsv1000012 CNV gain 25217958
nsv1075762 CNV deletion 25765185
nsv1133826 CNV deletion 24896259
nsv7523 CNV deletion 18451855
nsv950340 CNV deletion 24416366
nsv950341 CNV duplication 24416366

Variation tolerance for ARID1A Gene

Residual Variation Intolerance Score: 0.602% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARID1A Gene

Human Gene Mutation Database (HGMD)
ARID1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARID1A
Leiden Open Variation Database (LOVD)
ARID1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARID1A Gene

Disorders for ARID1A Gene

MalaCards: The human disease database

(47) MalaCards diseases for ARID1A Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARI1A_HUMAN
  • Coffin-Siris syndrome 2 (CSS2) [MIM:614607]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ARID1A

genes like me logo Genes that share disorders with ARID1A: view

No data available for Genatlas for ARID1A Gene

Publications for ARID1A Gene